Fever, and Micropenis

Diseases related with Fever and Micropenis

In the following list you will find some of the most common rare diseases related to Fever and Micropenis that can help you solving undiagnosed cases.

Top matches:

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Other less relevant matches:

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

High match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Top 5 symptoms//phenotypes associated to Fever and Micropenis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Micropenis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Ventriculomegaly High palate Low-set ears Abnormal facial shape Short stature Abnormality of the kidney Posteriorly rotated ears Hearing impairment Hypertelorism Microcephaly Syndactyly Cleft palate Polydactyly Agenesis of corpus callosum Spasticity Severe short stature Ventricular septal defect Anteverted nares Intellectual disability, severe Growth hormone deficiency Oligohydramnios Edema Muscular hypotonia Epicanthus Brachydactyly Apnea Conductive hearing impairment Hydronephrosis Toe syndactyly Sensorineural hearing impairment Cleft upper lip Hyperkeratosis Pulmonary hypoplasia Patent ductus arteriosus Hypogonadism Proptosis Precocious puberty Hyperactivity Abnormality of the urinary system Lissencephaly Preaxial polydactyly Alopecia Cerebellar hypoplasia Atrial septal defect Clinodactyly Abnormal heart morphology Pachygyria Hyperreflexia Abnormality of the nervous system Low-set, posteriorly rotated ears Feeding difficulties in infancy Hypertonia Wide nasal bridge Long philtrum Polymicrogyria Flexion contracture Renal agenesis Hernia Hypothyroidism Hypoglycemia Recurrent infections Primary amenorrhea Abnormality of the genital system Respiratory failure Specific learning disability Depressed nasal bridge Intrauterine growth retardation Autism Ambiguous genitalia Amenorrhea Hypoplasia of the corpus callosum Hypertension Talipes equinovarus

Rare Symptoms - Less than 30% cases

Frontal bossing Dilatation Prominent forehead Short palm Micromelia Premature birth Profound global developmental delay Dolichocephaly Hip dislocation Prominent nasal bridge Postaxial polydactyly Esotropia Dandy-Walker malformation Abnormality of the pinna Cerebellar vermis hypoplasia Renal cyst Generalized hypopigmentation Temperature instability Hypogonadotrophic hypogonadism Abnormality of the metacarpal bones Short thumb Sparse scalp hair Choanal atresia Abnormal form of the vertebral bodies Split hand Renal dysplasia Hypohidrosis Sparse and thin eyebrow Sparse eyelashes Diarrhea Aganglionic megacolon Severe intrauterine growth retardation Renal hypoplasia Coarctation of aorta Limb undergrowth Hand polydactyly Hypoplasia of penis Hydroureter Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Short femur Radial deviation of finger Wide intermamillary distance Delayed skeletal maturation Diabetes mellitus Dyspnea Broad nasal tip Malabsorption Delayed puberty Cutaneous photosensitivity Decreased fetal movement Full cheeks Decreased testicular size Behavioral abnormality Narrow forehead Hypopigmentation of the skin Sleep disturbance Gingival overgrowth Kyphosis Elbow flexion contracture Sleep apnea Attention deficit hyperactivity disorder Thin upper lip vermilion Short nose Intellectual disability, mild Exocrine pancreatic insufficiency Hypopigmentation of hair Osteopenia Partial agenesis of the corpus callosum Biparietal narrowing Upslanted palpebral fissure Adrenal insufficiency Poor suck Scrotal hypoplasia Skeletal dysplasia Retrognathia Ptosis Glaucoma Vomiting Osteoporosis Short neck Downslanted palpebral fissures Cognitive impairment Hypoplasia of the frontal lobes Hydrocephalus Scoliosis Strabismus Feeding difficulties Motor delay Hypotrichosis Large hands Sloping forehead Hepatomegaly Malar flattening Male pseudohermaphroditism Diabetes insipidus Status epilepticus Postnatal microcephaly Optic nerve hypoplasia Cataract Anemia Splenomegaly Renal insufficiency Microphthalmia Congenital diaphragmatic hernia Visual impairment Cardiomyopathy Hepatosplenomegaly Muscular hypotonia of the trunk Obesity Heterotopia Severe global developmental delay Weight loss Intellectual disability, profound Inguinal hernia Abnormality of the foot Gliosis Carious teeth Oral cleft Recurrent respiratory infections Small for gestational age Microtia Absent septum pellucidum Neoplasm Respiratory insufficiency Cleft lip Corneal opacity Colpocephaly Hypopituitarism Photophobia Absent knee epiphyses Ectopic calcification Abnormality of the dentition Congestive heart failure Bifid first metacarpal Myopathy Myopia Cleft vertebral arch Mesomelic short stature Increased nuchal translucency Delayed speech and language development Gastroschisis Broad alveolar ridges Pain Hyporeflexia Pruritus Ureteropelvic junction obstruction Infertility Abnormality of the cardiovascular system Hip dysplasia Febrile seizures Gastrointestinal hemorrhage Sepsis Abnormal renal morphology Tapered finger Short foot Small hand Downturned corners of mouth Arachnodactyly Genu valgum Advanced eruption of teeth Hypermetropia Bowed humerus Leukemia Stroke Aplasia/Hypoplasia affecting the eye Abnormal localization of kidney Respiratory tract infection Neonatal hypotonia Hypocholesterolemia Narrow mouth Decreased circulating aldosterone level Enlarged metaphyses Holoprosencephaly Bifid femur Thickened nuchal skin fold High forehead Chronic diarrhea Agenesis of cerebellar vermis 11 pairs of ribs Abnormal cortical gyration Hypoplastic ilia Wide anterior fontanel Long foot Flat acetabular roof Infantile spasms Abnormality of finger Delayed epiphyseal ossification Hydranencephaly Long upper lip Abnormality of limbs Duane anomaly Arachnoid cyst Abnormality of temperature regulation Epileptic spasms Submucous cleft hard palate Hip contracture Short humerus Osteomalacia Broad palm Disproportionate short stature Prolonged neonatal jaundice Long nose Cortical gyral simplification Elevated 7-dehydrocholesterol Thin eyebrow Abnormality of the tragus Hip subluxation Shoulder flexion contracture Abnormality of the pubic bone Abnormality of the distal phalanx of finger Loss of eyelashes Abnormality of calcium-phosphate metabolism Large iliac wings Aplasia/hypoplasia of the femur Abnormality of the larynx Small anterior fontanelle Median cleft palate Abnormality of the intervertebral disk Abnormally ossified vertebrae Central hypothyroidism Increased serum testosterone level Abnormality of the upper urinary tract Talipes calcaneovalgus Periventricular gray matter heterotopia Long clavicles Abnormality of the gallbladder Aplastic clavicle Tethered cord Septate vagina Sleep-wake cycle disturbance Alveolar ridge overgrowth Severe photosensitivity Opsoclonus Broad distal phalanx of finger Facial capillary hemangioma Gastrointestinal dysmotility Increased body weight Cholestatic liver disease Disseminated intravascular coagulation Clitoral hypertrophy Optic atrophy Acromicria Poor gross motor coordination Femoral bowing Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Hammertoe Triangular mouth Erysipelas Hypospadias Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Unilateral renal agenesis Bifid scrotum Aplasia/Hypoplasia of the cerebellum Poor fine motor coordination Abdominal obesity Abnormality of dental morphology Cutis marmorata Cor pulmonale Metatarsus adductus Overlapping toe Abnormality of cardiovascular system morphology Constipation Hypothermia Abnormality of the ribs Hyperbilirubinemia Multicystic kidney dysplasia Hypercholesterolemia Short toe Abnormal dermatoglyphics Rhizomelia Amblyopia Reduced number of teeth Pyloric stenosis Dental crowding Hyponatremia Recurrent otitis media Self-injurious behavior Polyhydramnios Eczema Postaxial hand polydactyly Peripheral demyelination Webbed neck Intestinal malrotation Iris coloboma Finger syndactyly Wide mouth Autistic behavior Intellectual disability, moderate Proximal placement of thumb Aggressive behavior Gastroesophageal reflux 2-3 toe syndactyly Hyperkalemia Bicornuate uterus Sclerocornea Hyperinsulinemia Failure to thrive in infancy Nasal speech Infantile muscular hypotonia Abnormal eyelash morphology Bicuspid aortic valve Upper limb undergrowth Self-mutilation Postaxial foot polydactyly Microglossia Severe failure to thrive Narrow palpebral fissure Tracheal stenosis Inflammation of the large intestine Excessive daytime somnolence Sex reversal Spontaneous abortion Abnormality of dental enamel Aortic valve stenosis Bradycardia Insulin resistance Overlapping fingers Bifid tongue Breech presentation Clumsiness Psychosis Type II diabetes mellitus Emotional lability Glucose intolerance Ocular albinism Hypoventilation Chromosome breakage Mesomelia Hypoplasia of the fovea Atrioventricular canal defect Acrocyanosis Oligomenorrhea Abnormality of digit Overweight Increased number of teeth Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Ulnar deviation of finger Albinism Pulmonary embolism Striae distensae Impaired pain sensation Aplasia/Hypoplasia of the radius Epiphyseal stippling Myeloid leukemia Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Decreased muscle mass Abnormal lung lobation Skeletal muscle hypertrophy Almond-shaped palpebral fissure Elevated erythrocyte sedimentation rate Prominent occiput Nail dysplasia Split foot Blepharitis Xerostomia Hypoplastic nipples Ectrodactyly Epiphora Keratitis Abnormality of the genitourinary system Oligodontia Conjunctivitis Omphalocele Thin skin Microdontia Ectodermal dysplasia Depressed nasal tip Vesicoureteral reflux Hypodontia Hypoplasia of the maxilla Anal atresia Short philtrum Blepharophimosis Telecanthus Immunodeficiency Congenital microcephaly Increased CSF protein Petechiae Spastic tetraparesis Purpura Bilateral cleft lip Blue irides Opacification of the corneal stroma Ureterocele Highly arched eyebrow Long face Absent speech Gait disturbance Tremor Ataxia Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Semilobar holoprosencephaly Nail pits Fair hair Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Hypoplasia of the thymus Sparse pubic hair Rectovaginal fistula Dysuria Heat intolerance Sparse axillary hair Anodontia Microretrognathia Cerebral visual impairment Apraxia Abnormal renal physiology Talipes Abnormality of eye movement Abnormality of the eye Gonadal tissue inappropriate for external genitalia or chromosomal sex Ovarian gonadoblastoma True hermaphroditism Anuria Streak ovary Low-grade fever Uterus didelphys Ambiguous genitalia, female Diffuse mesangial sclerosis Ambiguous genitalia, male Gonadoblastoma Hypocalcemia Aniridia Gonadal dysgenesis Glomerulopathy Focal segmental glomerulosclerosis Nephroblastoma Glomerulonephritis Glomerulosclerosis Nephrotic syndrome Abdominal distention Nephropathy Stage 5 chronic kidney disease Lethargy Pallor Proteinuria Dehydration Exercise intolerance Decreased liver function Thrombocytopenia Tetraparesis Cerebral calcification Neuronal loss in central nervous system Tetraplegia Abnormality of movement Congenital cataract Generalized tonic-clonic seizures Skin rash Abnormality of the liver Hypertrophic cardiomyopathy Elevated hepatic transaminase Jaundice Cerebral cortical atrophy Decreased circulating follicle stimulating hormone level Cerebral palsy Decreased circulating luteinizing hormone level Bitemporal hemianopia Pituitary dwarfism Septo-optic dysplasia Ectopic posterior pituitary Optic disc hypoplasia Anterior pituitary hypoplasia Hemianopia Cavum septum pellucidum Adrenocorticotropic hormone deficiency Panhypopituitarism Amniotic constriction ring Severe vision loss Short finger Abnormal cerebellum morphology Finger clinodactyly Multiple joint contractures Reticulocytopenia Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Histiocytosis Bilateral camptodactyly Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Cervical lymphadenopathy Upper eyelid edema Increased antibody level in blood Short metacarpal Rickets Elbow dislocation Sacral dimple Absence seizures Short chin Knee flexion contracture Muscle stiffness Bilateral single transverse palmar creases Bowing of the long bones Abnormality of the metaphysis Fine hair Hypsarrhythmia Tetralogy of Fallot Prominent nose Retroperitoneal fibrosis Delayed myelination Bifid uvula Single transverse palmar crease Thick vermilion border Bulbous nose Dry skin Platyspondyly Sparse hair Postnatal growth retardation Rigidity Clinodactyly of the 5th finger Cerebral atrophy Abnormality of the skeletal system Seborrheic keratosis Microcytic anemia Hallux valgus Oculomotor apraxia Lobulated tongue Pneumonia Central Y-shaped metacarpal Midline notch of upper alveolar ridge Y-shaped metacarpals Occipital meningocele Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Hypothalamic hamartoma Episodic tachypnea Mesoaxial polydactyly Tongue nodules Hamartoma of tongue Abnormal oral frenulum morphology Camptodactyly Accessory oral frenulum Preaxial foot polydactyly Meningocele Foot polydactyly Hamartoma Tibial bowing Abnormal retinal morphology Molar tooth sign on MRI Abnormality of neuronal migration Preaxial hand polydactyly Bilateral cryptorchidism Trigonocephaly Polycystic kidney dysplasia Tachypnea Pes planus Abnormal cardiac septum morphology Leukocytosis Bronchiectasis Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Azoospermia Plagiocephaly Osteolysis Type I diabetes mellitus Hypergonadotropic hypogonadism Aspiration Gynecomastia Hyperpigmentation of the skin Telangiectasia Hypertrichosis Retinopathy Hypertriglyceridemia Blue sclerae Epistaxis Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Recurrent fractures Polyneuropathy Flat face Ichthyosis Lymphadenopathy Pectus carinatum Type I lissencephaly


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